Variant report

Variant	rs1790745
Chromosome Location	chr11:67255156-67255157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr11:67254959-67255985	GM12878	blood:	n/a	n/a
2	ATF2	chr11:67255114-67255570	GM12878	blood:	n/a	n/a
3	YY1	chr11:67254984-67255258	GM12878	blood:	n/a	n/a
4	FOXM1	chr11:67254991-67255582	GM12878	blood:	n/a	n/a
5	BATF	chr11:67255056-67255567	GM12878	blood:	n/a	n/a
6	EP300	chr11:67255038-67255471	GM12878	blood:	n/a	n/a
7	PML	chr11:67255062-67255790	GM12878	blood:	n/a	n/a
8	NFIC	chr11:67254985-67255822	GM12878	blood:	n/a	n/a
9	BCL3	chr11:67255083-67255704	GM12878	blood:	n/a	n/a
10	RUNX3	chr11:67255006-67255772	GM12878	blood:	n/a	n/a
11	YY1	chr11:67254902-67255257	GM12892	blood:	n/a	n/a
12	STAT5A	chr11:67255106-67255750	GM12878	blood:	n/a	n/a
13	ATF2	chr11:67255044-67255601	GM12878	blood:	n/a	n/a
14	NFATC1	chr11:67255008-67255631	GM12878	blood:	n/a	n/a
15	MTA3	chr11:67254969-67255745	GM12878	blood:	n/a	n/a
16	NFATC1	chr11:67255013-67255697	GM12878	blood:	n/a	n/a
17	RUNX3	chr11:67254963-67255663	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67253095..67255847-chr16:2577337..2579833,2	MCF-7	breast:
2	chr11:67231244..67235869-chr11:67255079..67259378,6	MCF-7	breast:
3	chr11:67252342..67255361-chr11:67262827..67265750,4	MCF-7	breast:
4	chr11:67207077..67209536-chr11:67252899..67255473,2	K562	blood:

No data

Variant related genes	Relation type
AIP	TF binding region
ENSG00000172725	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000162066	Chromatin interaction
ENSG00000172663	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10896175	1.00[EUR][1000 genomes]
rs11227796	1.00[EUR][1000 genomes]
rs11227804	1.00[EUR][1000 genomes]
rs11821703	1.00[EUR][1000 genomes]
rs12288316	1.00[EUR][1000 genomes]
rs12293606	1.00[EUR][1000 genomes]
rs1382089	1.00[EUR][1000 genomes]
rs1618605	1.00[EUR][1000 genomes]
rs1620333	1.00[EUR][1000 genomes]
rs1624189	1.00[EUR][1000 genomes]
rs1625032	1.00[EUR][1000 genomes]
rs1625892	1.00[EUR][1000 genomes]
rs1630068	1.00[EUR][1000 genomes]
rs1632616	1.00[EUR][1000 genomes]
rs1638558	1.00[EUR][1000 genomes]
rs1638559	1.00[EUR][1000 genomes]
rs1638560	1.00[EUR][1000 genomes]
rs1638561	1.00[EUR][1000 genomes]
rs1638562	1.00[EUR][1000 genomes]
rs1638563	1.00[EUR][1000 genomes]
rs1638570	1.00[EUR][1000 genomes]
rs1638572	1.00[EUR][1000 genomes]
rs1638575	1.00[EUR][1000 genomes]
rs1638576	1.00[EUR][1000 genomes]
rs1638577	1.00[EUR][1000 genomes]
rs1638581	1.00[EUR][1000 genomes]
rs1638584	1.00[EUR][1000 genomes]
rs1638587	1.00[EUR][1000 genomes]
rs1790729	1.00[EUR][1000 genomes]
rs1790730	1.00[EUR][1000 genomes]
rs1790734	1.00[EUR][1000 genomes]
rs1790736	1.00[EUR][1000 genomes]
rs1790741	1.00[EUR][1000 genomes]
rs1790743	1.00[EUR][1000 genomes]
rs1790744	1.00[EUR][1000 genomes]
rs1790749	1.00[EUR][1000 genomes]
rs1790750	1.00[EUR][1000 genomes]
rs1790754	1.00[EUR][1000 genomes]
rs1790756	1.00[EUR][1000 genomes]
rs1790763	1.00[EUR][1000 genomes]
rs1790764	1.00[EUR][1000 genomes]
rs1790765	1.00[EUR][1000 genomes]
rs1824712	1.00[EUR][1000 genomes]
rs2054409	1.00[EUR][1000 genomes]
rs2447590	1.00[EUR][1000 genomes]
rs2447591	1.00[EUR][1000 genomes]
rs2447597	1.00[EUR][1000 genomes]
rs2511058	1.00[EUR][1000 genomes]
rs2511059	1.00[EUR][1000 genomes]
rs2514013	1.00[EUR][1000 genomes]
rs2514014	1.00[EUR][1000 genomes]
rs2514015	1.00[EUR][1000 genomes]
rs2514024	1.00[EUR][1000 genomes]
rs2514045	1.00[EUR][1000 genomes]
rs2514064	1.00[EUR][1000 genomes]
rs2514262	1.00[EUR][1000 genomes]
rs2514263	1.00[EUR][1000 genomes]
rs2885171	1.00[EUR][1000 genomes]
rs3016861	1.00[EUR][1000 genomes]
rs35363135	1.00[EUR][1000 genomes]
rs36052107	1.00[EUR][1000 genomes]
rs5019164	1.00[EUR][1000 genomes]
rs56050553	1.00[EUR][1000 genomes]
rs56102510	1.00[EUR][1000 genomes]
rs56405884	1.00[EUR][1000 genomes]
rs57047868	1.00[EUR][1000 genomes]
rs57134963	1.00[EUR][1000 genomes]
rs57748654	1.00[EUR][1000 genomes]
rs57749415	1.00[EUR][1000 genomes]
rs57757103	1.00[EUR][1000 genomes]
rs57955602	1.00[EUR][1000 genomes]
rs58999825	1.00[EUR][1000 genomes]
rs59500232	1.00[EUR][1000 genomes]
rs596431	1.00[EUR][1000 genomes]
rs596944	1.00[EUR][1000 genomes]
rs601363	1.00[EUR][1000 genomes]
rs60136955	1.00[EUR][1000 genomes]
rs60251934	1.00[EUR][1000 genomes]
rs602720	1.00[EUR][1000 genomes]
rs604540	1.00[EUR][1000 genomes]
rs60521870	1.00[EUR][1000 genomes]
rs611697	1.00[EUR][1000 genomes]
rs61282424	1.00[EUR][1000 genomes]
rs61429992	1.00[EUR][1000 genomes]
rs61610719	1.00[EUR][1000 genomes]
rs618633	1.00[EUR][1000 genomes]
rs641081	1.00[EUR][1000 genomes]
rs6591267	1.00[EUR][1000 genomes]
rs7104627	1.00[EUR][1000 genomes]
rs7121803	1.00[EUR][1000 genomes]
rs7124630	1.00[EUR][1000 genomes]
rs73490545	1.00[EUR][1000 genomes]
rs73490554	1.00[EUR][1000 genomes]
rs73506004	1.00[EUR][1000 genomes]
rs73506015	1.00[EUR][1000 genomes]
rs73506054	1.00[EUR][1000 genomes]
rs73506056	1.00[EUR][1000 genomes]
rs73506069	1.00[EUR][1000 genomes]
rs73506074	1.00[EUR][1000 genomes]
rs743679	1.00[EUR][1000 genomes]
rs7934566	1.00[EUR][1000 genomes]
rs7947114	1.00[EUR][1000 genomes]
rs8191436	1.00[EUR][1000 genomes]
rs8191446	1.00[EUR][1000 genomes]
rs8191449	1.00[EUR][1000 genomes]
rs949250	1.00[EUR][1000 genomes]
rs949251	1.00[EUR][1000 genomes]
rs949252	1.00[EUR][1000 genomes]
rs949253	1.00[EUR][1000 genomes]
rs949254	1.00[EUR][1000 genomes]
rs949255	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
6	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
7	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
8	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
9	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
11	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
12	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
13	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
14	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
15	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
16	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
17	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
18	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
19	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
20	nsv1067892	chr11:67249418-67255234	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
21	nsv1052919	chr11:67252337-67306030	Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
22	nsv541078	chr11:67252337-67306030	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67251000-67257000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:67251000-67271000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:67251200-67257400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:67251200-67257400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:67251400-67257000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:67251400-67268000	Weak transcription	HSMMtube	muscle
7	chr11:67251400-67271200	Weak transcription	HSMM	muscle
8	chr11:67251400-67271400	Weak transcription	HUVEC	blood vessel
9	chr11:67251600-67255200	Weak transcription	Osteobl	bone
10	chr11:67251600-67256400	Weak transcription	HMEC	breast
11	chr11:67251600-67256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:67251600-67256600	Weak transcription	Aorta	Aorta
13	chr11:67251600-67256800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:67251600-67257200	Weak transcription	A549	lung
15	chr11:67251600-67259800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:67251600-67268400	Weak transcription	NH-A	brain
17	chr11:67251600-67268600	Strong transcription	Fetal Intestine Small	intestine
18	chr11:67251600-67270600	Weak transcription	Fetal Heart	heart
19	chr11:67251600-67271400	Weak transcription	NHDF-Ad	bronchial
20	chr11:67251800-67255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:67252000-67257600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:67252400-67255200	Weak transcription	Fetal Kidney	kidney
23	chr11:67252400-67256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:67252400-67256800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:67252600-67255200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:67252600-67255200	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:67252600-67255200	Weak transcription	Placenta	Placenta
28	chr11:67252600-67255400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:67252600-67257600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:67252600-67270000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:67252600-67270200	Strong transcription	Fetal Stomach	stomach
32	chr11:67252600-67271600	Weak transcription	Psoas Muscle	Psoas
33	chr11:67252800-67255400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:67252800-67255600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:67252800-67255600	Weak transcription	Pancreas	Pancrea
36	chr11:67252800-67255600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:67252800-67270000	Weak transcription	Fetal Brain Male	brain
38	chr11:67252800-67271400	Weak transcription	Right Atrium	heart
39	chr11:67253000-67255800	Genic enhancers	Dnd41	blood
40	chr11:67253200-67257200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:67253800-67256000	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr11:67253800-67258600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:67253800-67262600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:67253800-67263800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:67253800-67269600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:67254000-67255800	Strong transcription	Brain Angular Gyrus	brain
47	chr11:67254000-67256000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr11:67254000-67256200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:67254000-67256600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:67254000-67256800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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